Canonical Allele Identifier: CA357947651
Community Standard Title: NM_000944.5(PPP3CA):c.1457G>A (p.Arg486His)
Gene: PPP3CA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.101025974C>T , CM000666.2:g.101025974C>T GRCh38
NC_000004.11:g.101947131C>T , CM000666.1:g.101947131C>T GRCh37
NC_000004.10:g.102166154C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_000944.5:c.1457G>A MANE Select NP_000935.1:p.Arg486His
ENST00000394854.8:c.1457G>A MANE Select ENSP00000378323.3:p.Arg486His
NM_000944.4:c.1457G>A NP_000935.1:p.Arg486His
NM_001130691.1:c.1427G>A NP_001124163.1:p.Arg476His
NM_001130691.2:c.1427G>A NP_001124163.1:p.Arg476His
NM_001130692.1:c.1301G>A NP_001124164.1:p.Arg434His
NM_001130692.2:c.1301G>A NP_001124164.1:p.Arg434His
ENST00000323055.10:c.1301G>A ENSP00000320580.6:p.Arg434His
ENST00000394853.8:c.1427G>A ENSP00000378322.4:p.Arg476His
ENST00000394854.7:c.1457G>A ENSP00000378323.3:p.Arg486His
ENST00000507176.5:c.1163G>A ENSP00000422990.1:p.Arg388His
ENST00000512215.5:c.761G>A ENSP00000422781.1:p.Arg254His
XM_017008365.1:c.1421G>A XP_016863854.1:p.Arg474His
XM_024454127.1:c.1307G>A XP_024309895.1:p.Arg436His